C26R (p.Cys26Arg) variant of SQSTM1 (Sequestosome-1)
C26R (p.Cys26Arg) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C26R (p.Cys26Arg) variant details
- p.Cys26Arg
- TOPMed rs1172565628
- gnomAD rs1172565628
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.03